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Related Concept Videos

Imaging Studies III: Gastrointestinal Motility Studies and Virtual Colonoscopy01:26

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This lesson explores three gastrointestinal imaging techniques: radionuclide testing, colonic transit studies, and virtual colonoscopy.
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Imaging Studies II: Positron Emission Tomography and Scintigraphy01:25

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Positron Emission Tomography (PET) is a medical imaging technique that provides crucial insights into the body's physiological functions at a molecular level. It is an indispensable resource for diagnosing, staging, and monitoring various illnesses, notably cancer, neurological disorders, and cardiovascular conditions.
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Evaluating the rectum and anus plays a crucial role in conducting a thorough physical examination of the gastrointestinal system. Although it may be uncomfortable and often embarrassing for the patient, it holds immense diagnostic value, particularly in detecting gastrointestinal diseases and abnormalities. This guide will explain how to perform this assessment using inspection and palpation methods.
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Voiding Cystourethrography (VCUG) and Cystography are specialized radiographic procedures used to examine the structure and function of the bladder and urethra.Voiding Cystourethrography (VCUG)A Voiding Cystourethrogram (VCUG) is a diagnostic imaging procedure that assesses the anatomy and function of the lower urinary tract. It focuses on the bladder, bladder neck, and urethra, helping detect abnormalities such as vesicoureteral reflux (VUR)—the backward or reverse flow of urine into the...
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DefinitionComputed Tomography (CT) of the genitourinary (GU) tract is a non-invasive imaging modality that utilizes X-rays and computer processing to generate detailed cross-sectional images of the urinary system, encompassing the kidneys, ureters, bladder, and adjacent structures such as the adrenal glands.PurposeCT scans of the GU tract serve several diagnostic and therapeutic purposes, including:Diagnosis of Urinary Tract Diseases: Detects kidney stones, tumors, cysts, and congenital...
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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
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Colon Transit Scintigraphy in Schaaf-Yang Syndrome.

Jose R Infante1, Alvaro Baena, Andres Martinez

  • 1From the Nuclear Medicine Department, Complejo Hospitalario Universitario, Badajoz, Spain.

Clinical Nuclear Medicine
|June 26, 2021
PubMed
Summary

Schaaf-Yang syndrome, a rare genetic disorder, involves developmental delays and intellectual disability. Colon transit scintigraphy revealed rapid proximal colonic transit and anorectal retention in a patient with this condition.

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Area of Science:

  • Genetics
  • Pediatrics
  • Nuclear Medicine

Background:

  • Schaaf-Yang syndrome (SHFYNG) is a rare autosomal dominant genetic disorder.
  • Characterized by developmental delays, hypotonia, intellectual disability, feeding issues, and dysmorphic features.
  • Over 250 cases reported, highlighting its extreme rarity.

Observation:

  • A 6-year-old boy presented with chronic constipation unresponsive to medical treatment.
  • Clinical characteristics and gene mutations were consistent with Schaaf-Yang syndrome.
  • Colon transit scintigraphy was performed using 111In-DTPA.

Findings:

  • Planar and SPECT/CT imaging demonstrated rapid proximal colonic transit.
  • Significant anorectal retention was observed.
  • These findings provide insights into gastrointestinal motility in SHFYNG.

Implications:

  • Colon transit scintigraphy can aid in diagnosing gastrointestinal dysfunction in Schaaf-Yang syndrome.
  • Understanding motility patterns may inform treatment strategies for constipation in affected individuals.
  • Further research into the pathophysiology of gastrointestinal issues in SHFYNG is warranted.